Evidence for increased SOX3 dosage as a risk factor for X-linked hypopituitarism and neural tube defects von Bauters, Marijke, Frints, Suzanna G., Van Esch, Hilde, Spruijt, Liesbeth, Baldewijns, Marcella M., Die-Smulders, Christine E. M. de, Fryns, Jean-Pierre, Marynen, Peter, Froyen, Guy

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Advances in prenatal screening: the ethical dimension von de Jong, Antina, Dondorp, Wybo J, Frints, Suzanna G. M, de Die-Smulders, Christine E. M, de Wert, Guido M. W. R

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Facioscapulohumeral muscular dystrophy—Reproductive counseling, pregnancy, and delivery in a complex multigenetic disease von Vincenten, Sanne C. C., Van Der Stoep, Nienke, Paulussen, Aimée D. C., Mul, Karlien, Badrising, Umesh A., Kriek, Marjolein, Van Der Heijden, Olivier W. H., Van Engelen, Baziel G. M., Voermans, Nicol C., De Die‐Smulders, Christine E. M., Lassche, Saskia

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The effects of an online decision aid to support the reproductive decision‐making process of genetically at risk couples—A pilot study von Severijns, Yil, Heijmans, Maartje W. F., Die‐Smulders, Christine E. M., Bijlsma, Emilia K., Corsten‐Janssen, Nicole, Joosten, Sara J. R., Kuijk, Sander M. J., Lichtenbelt, Klaske D., Ottenheim, Cecile P. E., Stuurman, Kyra E., Tan‐Sindhunata, Gita M. B., Vries, Hein, Osch, Liesbeth A. D. M.

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Variant CCG and GGC repeats within the CTG expansion dramatically modify mutational dynamics and likely contribute toward unusual symptoms in some myotonic dystrophy type 1 patient... von Braida, Claudia, Stefanatos, Rhoda K.A., Adam, Berit, Mahajan, Navdeep, Smeets, Hubert J.M., Niel, Florence, Goizet, Cyril, Arveiler, Benoit, Koenig, Michel, Lagier-Tourenne, Clotilde, Mandel, Jean-Louis, Faber, Catharina G., de Die-Smulders, Christine E.M., Spaans, Frank, Monckton, Darren G.

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Disease Onset in Huntington's Disease: When Is the Conversion? von Oosterloo, Mayke, Greef, Bianca T.A., Bijlsma, Emilia K., Durr, Alexandra, Tabrizi, Sarah J., Estevez‐Fraga, Carlos, Die‐Smulders, Christine E.M., Roos, Raymund A.C.

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Biallelic B3GALT6 mutations cause spondylodysplastic Ehlers-Danlos syndrome von Van Damme, Tim, Pang, Xiaomeng, Guillemyn, Brecht, Gulberti, Sandrine, Syx, Delfien, De Rycke, Riet, Kaye, Olivier, de Die-Smulders, Christine E M, Pfundt, Rolph, Kariminejad, Ariana, Nampoothiri, Sheela, Pierquin, Geneviève, Bulk, Saskia, Larson, Austin A, Chatfield, Kathryn C, Simon, Marleen, Legrand, Anne, Gerard, Marion, Symoens, Sofie, Fournel-Gigleux, Sylvie, Malfait, Fransiska

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Structural and functional cardiac changes in myotonic dystrophy type 1: a cardiovascular magnetic resonance study von Hermans, Mieke C E, Faber, Catharina G, Bekkers, Sebastiaan C A M, de Die-Smulders, Christine E M, Gerrits, Monique M, Merkies, Ingemar S J, Snoep, Gabriel, Pinto, Yigal M, Schalla, Simon

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Diagnostic exome-based preconception carrier testing in consanguineous couples: results from the first 100 couples in clinical practice von Sallevelt, Suzanne C.E.H., Stegmann, Alexander P.A., de Koning, Bart, Velter, Crool, Steyls, Anja, van Esch, Melanie, Lakeman, Phillis, Yntema, Helger, Esteki, Masoud Zamani, de Die-Smulders, Christine E.M., Gilissen, Christian, van den Wijngaard, Arthur, Brunner, Han G., Paulussen, Aimée D.C.

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Preimplantation genetic testing for Neurofibromatosis type 1: more than 20 years of clinical experience von Vernimmen, Vivian, Paulussen, Aimée D C, Dreesen, Jos C F M, van Golde, Ron J, Zamani Esteki, Masoud, Coonen, Edith, van Buul-van Zwet, Marianne L, Homminga, Irene, Derijck, Alwin A H A, Brandts, Lloyd, Stumpel, Constance T R M, de Die-Smulders, Christine E M

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Parental repeat length instability in myotonic dystrophy type 1 pre- and protomutations von Joosten, Isis B. T., Hellebrekers, Debby M. E. I., de Greef, Bianca T. A., Smeets, Hubert J. M., de Die-Smulders, Christine E. M., Faber, Catharina G., Gerrits, Monique M.

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The clinical and pathological phenotype of C9ORF72 hexanucleotide repeat expansions von SIMON-SANCHEZ, Javier, DOPPER, Elise G. P, SMITS, Marion, RAAPHORST, Joost, DEN BERG, Leonard H. Van, SCHELHAAS, Helenius J, DE DIE-SMULDERS, Christine E. M, MAJOOR-KRAKAUER, Danielle, ROZEMULLER, Annemieke J. M, WILLEMSEN, Rob, PIJNENBURG, Yolande A. L, HEUTINK, Peter, COHN-HOKKE, Petra E, SWIETEN, John C. Van, HUKEMA, Renate K, NICOLAOU, Nayia, SEELAAR, Harro, DE GRAAF, J. Roos A, DE KONING, Inge, SCHOOR, Natasja M. Van, DEEG, Dorly J. H

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SNP array-based copy number and genotype analyses for preimplantation genetic diagnosis of human unbalanced translocations von VAN UUM, Chris M. J, STEVENS, Servi J. C, DREESEN, Joseph C. F. M, DRÜSEDAU, Marion, SMEETS, Hubert J, HOLLANDERS-CROMBACH, Bertien, DE DIE-SMULDERS, Christine E. M, GERAEDTS, Joep Pm, ENGELEN, John J. M, COONEN, Edith

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Ovarian stimulation for IVF and risk of primary breast cancer in BRCA1/2 mutation carriers von Derks-Smeets, Inge A. P., Schrijver, Lieske H., de Die-Smulders, Christine E. M., Tjan-Heijnen, Vivianne C. G., van Golde, Ron J. T., Smits, Luc J., Caanen, Beppy, van Asperen, Christi J., Ausems, Margreet, Collée, Margriet, van Engelen, Klaartje, Kets, C. Marleen, van der Kolk, Lizet, Oosterwijk, Jan C., van Os, Theo A. M., Rookus, Matti A., van Leeuwen, Flora E., Gómez García, Encarna B.

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Hereditary breast and ovarian cancer and reproduction: an observational study on the suitability of preimplantation genetic diagnosis for both asymptomatic carriers and breast canc... von Derks-Smeets, Inge A. P., de Die-Smulders, Christine E. M., Mackens, Shari, van Golde, Ron, Paulussen, Aimee D., Dreesen, Jos, Tournaye, Herman, Verdyck, Pieter, Tjan-Heijnen, Vivianne C. G., Meijer-Hoogeveen, Madelon, De Greve, Jacques, Geraedts, Joep, De Rycke, Martine, Bonduelle, Maryse, Verpoest, Willem M.

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Non-invasive prenatal testing: ethical issues explored von DE JONG, Antina, DONDORP, Wybo J, DE DIE-SMULDERS, Christine E. M, FRINTS, Suzanne G. M, DE WERT, Guido M. W. R

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Microarrays as a diagnostic tool in prenatal screening strategies: ethical reflection von de Jong, Antina, Dondorp, Wybo J., Macville, Merryn V. E., de Die-Smulders, Christine E. M., van Lith, Jan M. M., de Wert, Guido M. W. R.

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Peripheral neuropathy in myotonic dystrophy type 1 von Hermans, Mieke C. E., Faber, Catharina G., Vanhoutte, Els K., Bakkers, Mayienne, De Baets, Marc H., de Die-Smulders, Christine E. M., Merkies, Ingemar S. J.

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An FBN1 Deep Intronic Mutation in a Familial Case of Marfan Syndrome: An Explanation for Genetically Unsolved Cases? von Gillis, Elisabeth, Kempers, Marlies, Salemink, Simone, Timmermans, Janneke, Cheriex, Emile C., Bekkers, Sebastiaan C.A.M., Fransen, Erik, De Die-Smulders, Christine E.M., Loeys, Bart L., Laer, Lut Van

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Preimplantation genetic diagnosis in mitochondrial DNA disorders: challenge and success von Sallevelt, Suzanne C E H, Dreesen, Joseph C F M, Drüsedau, Marion, Spierts, Sabine, Coonen, Edith, van Tienen, Florence H J, van Golde, Ronald J T, de Coo, Irineus F M, Geraedts, Joep P M, de Die-Smulders, Christine E M, Smeets, Hubert J M

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